Results 11 to 20 of about 20,235 (200)
Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2
The Turkish Journal of Pediatrics, 2017 Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement.
Uluç Yiş +8 more
doaj +1 more source
Matrix Biology Plus, 2022 The linkage between the basement membrane (BM) and cytoskeleton is crucial for muscle fiber stability and signal transduction. Mutations in the linkage molecules can cause various types of muscular dystrophies. The different severities and times of onset
Yamato Kikkawa +10 more
doaj +1 more source
BMC Pediatrics, 2019 Background Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement.
Kondakova Olga Borisovna +10 more
doaj +1 more source
Anesthesia for a child with Walker–Warburg syndrome
Brazilian Journal of Anesthesiology, 2014 Background and objectives: Walker–Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement.
Emine Arzu Kose +4 more
doaj +1 more source
Genetic analysis of muscular dystrophies: our experience in Mexico
Folia Neuropathologica, 2021 Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness.
Rosa Elena Escobar-Cedillo +9 more
doaj +1 more source
Frontiers in Aging Neuroscience, 2014 Ullrich congenital muscular dystrophy and Bethlem myopathy are caused by mutations in collagen VI genes, which encode an extracellular matrix protein; yet mitochondria play a major role in disease pathogenesis through a short circuit caused by ...
Alessandra eZulian +20 more
doaj +1 more source
Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy [PDF]
Malaysian Orthopaedic Journal, 2011 Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy.
Gosal Gurinder S, Shah Hitesh H
doaj
Diagnosis of Congenital Muscular Dystrophy
Pediatric Neurology Briefs, 1996 Patterns of alkaline and acid phosphatases were compared with the distribution of merosin and dystrophin staining in muscle biopsies from 20 children with congenital muscular dystrophy (CMD) examined at the Department of Neurology, Washington University ...
J Gordon Millichap
doaj +1 more source
Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies
Biomedicines, 2022 Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett +5 more
doaj +1 more source
Advances in imaging of brain abnormalities in neuromuscular disease
Therapeutic Advances in Neurological Disorders, 2019 Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj +1 more source